Genetic Testing
Genetic testing, which involves analysis of your DNA, is still a debated issue in breast cancer treatment. Genetic testing for breast cancer tests for a genetic change or mutation also found in a number of other people who have contracted breast cancer.
If your family has a high incidence of breast or ovarian cancer, you may want to be tested for the gene changes that predispose you to breast cancer. In breast and ovarian cancer, the susceptible genes are called BRCA1 and BRCA2. If you have these genes with specific mutations, you have a significantly higher risk of getting these diseases.
In Her Own Words
After being diagnosed with breast cancer and speaking to my doctor about family history, it was a real wake-up call to actually see how many people, especially the women in my family, had either breast or ovarian cancer. Being tested for the BRCA gene has probably saved my life.
— Donna, age 52, 1-year survivor
Mutations of the BRCA1 and BRCA2 genes account for about 36 to 85 percent of the breast cancer that occurs in women with strong family histories of the disease. In other words, women with this gene mutation have a three to seven times higher risk than women without the gene.
It is highest in families with a history of multiple cases of breast cancer, cases of both breast and ovarian cancer, and one or more family members with two primary cancers, such as the original tumor present in two different sites, or in those women of Ashkenazi Jewish background (Eastern Europe). Also, women with an inherited alteration in one of these genes have an increased risk of developing breast cancer at a younger age (before menopause).
Alert
The fear of having your health insurance carrier discover the results of your test, especially if you have tested positive for the breast cancer gene, is a real concern with many women. Gene testing and its impact on health insurance coverage has received much publicity and lawmakers are working on changes that will protect against discrimination by insurance companies.
Before you decide to have genetic testing done, it is recommended that you seek genetic counseling. A genetic counselor or physician with interest in the area will help you look at your family and medical history and discuss in detail your risk of developing breast cancer.
A genetic counselor can not only help you decide if you want to be tested, and what this means to you, but can also provide support before and after genetic testing. Although genetic testing is done with a simple blood test, it carries psychological, ethical, and social issues that need to be addressed to help with the decision-making process and the implications of what you do with the information in the future.
The lifetime risk of developing breast cancer in women found with the BRCA1 and BRCA2 mutated genes range is 40 percent to as high as 85 percent. There is also a 15 to 45 percent chance of developing ovarian cancer. Women who have the inherited mutations in BRCA1 or BRCA2 but have not been diagnosed with breast cancer may want to consider preventive strategies, such as prophylactic mastectomy (removing the breasts) or oophorectomy (removing the ovaries).
Other women may choose “careful watching” by their doctor, with follow-up appointments every three months. Some women choose to use tamoxifen, an anti-estrogen hormone. Seriously consider whether or not to have genetic testing done, as the information this testing provides can influence your life in many ways.
Fact
There is a new federal law that protects women from genetic discrimination. It is called the Genetic Information Nondiscrimination Act (GINA). The Coalition for Genetic Fairness has published an interactive online guide to GINA.
A positive test result may have a direct impact on a person's emotions, relationships, finances, and medical choices. Genetic testing influences family members by revealing information about them, which may cause tension within families. Also some of those within the family that test negative may suffer from survivor guilt. Test results may also affect personal choices, such as marriage and decisions regarding having children.
